ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.582A>G (p.Ala194=) (rs764101035)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000714145 SCV000706980 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714145 SCV000844825 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768361 SCV000899068 uncertain significance Angelman syndrome 2018-09-19 criteria provided, single submitter clinical testing UBE3A NM_130838.1 exon 3 p.Ala174= (c.522A>G): This variant has not been reported in the literature but is present in 4/34418 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs764101035). This variant is present in ClinVar (Variation ID:500854). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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